R11P (p.Arg11Pro) variant of SDHB (P21912)
R11P (p.Arg11Pro) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pheochromocytoma; Pheochromocytoma/paraganglioma syndrome 4; Gastrointestinal st. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
R11P (p.Arg11Pro) variant details
- p.Arg11Pro
- rs111430410
- ClinGen CA338230829
- ClinVar RCV002695368
- Uncertain significance
- Pheochromocytoma; Pheochromocytoma/paraganglioma syndrome 4; Gastrointestinal st
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.60
- CADD 17.70
- PolyPhen-2 0.12
- SIFT 0.26
- ClinVar: Uncertain significance (Pheochromocytoma; Pheochromocytoma/paraganglioma syndrome 4; Gas)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available
- Cited in: The UK NEQAS for Molecular Genetics scheme for gastrointestinal stromal tumour: findings and recommendations following… (PMID 22685257)
- Cited in: Tumor markers in colorectal cancer, gastric cancer and gastrointestinal stromal cancers: European group on tumor… (PMID 23852704)